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GeneBe API Showcase

This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.

API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.

Documentation & Advanced Usage

Complete API documentation:docs.genebe.net/docs/api/overview/

Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/

Python client for pandas:pypi.org/project/genebe/

Java CLI for VCF files:github.com/pstawinski/genebe-cli

All tools documented at:docs.genebe.net

API Request Examples for Variant: 19-4719326-T-TTAAA (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=4719326&ref=T&alt=TTAAA&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "19",
      "pos": 4719326,
      "ref": "T",
      "alt": "TTAAA",
      "effect": "intron_variant",
      "transcript": "ENST00000262960.14",
      "consequences": [
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "DPP9",
          "gene_hgnc_id": 18648,
          "hgvs_c": "c.56+521_56+524dupTTTA",
          "hgvs_p": null,
          "transcript": "NM_139159.5",
          "protein_id": "NP_631898.3",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 892,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2679,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4273,
          "mane_select": "ENST00000262960.14",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "DPP9",
          "gene_hgnc_id": 18648,
          "hgvs_c": "c.56+524_56+525insTTTA",
          "hgvs_p": null,
          "transcript": "ENST00000262960.14",
          "protein_id": "ENSP00000262960.8",
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 892,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2679,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4273,
          "mane_select": "NM_139159.5",
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "DPP9",
          "gene_hgnc_id": 18648,
          "hgvs_c": "c.56+521_56+524dupTTTA",
          "hgvs_p": null,
          "transcript": "NM_001384611.1",
          "protein_id": "NP_001371540.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 892,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2679,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4139,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "DPP9",
          "gene_hgnc_id": 18648,
          "hgvs_c": "c.56+521_56+524dupTTTA",
          "hgvs_p": null,
          "transcript": "NM_001384612.1",
          "protein_id": "NP_001371541.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 892,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2679,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4383,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "DPP9",
          "gene_hgnc_id": 18648,
          "hgvs_c": "c.56+521_56+524dupTTTA",
          "hgvs_p": null,
          "transcript": "NM_001384613.1",
          "protein_id": "NP_001371542.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 892,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2679,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4148,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "DPP9",
          "gene_hgnc_id": 18648,
          "hgvs_c": "c.56+521_56+524dupTTTA",
          "hgvs_p": null,
          "transcript": "NM_001384614.1",
          "protein_id": "NP_001371543.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 892,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2679,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4081,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 21,
          "intron_rank": 2,
          "intron_rank_end": null,
          "gene_symbol": "DPP9",
          "gene_hgnc_id": 18648,
          "hgvs_c": "c.56+521_56+524dupTTTA",
          "hgvs_p": null,
          "transcript": "NM_001384615.1",
          "protein_id": "NP_001371544.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 892,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2679,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4220,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "DPP9",
          "gene_hgnc_id": 18648,
          "hgvs_c": "c.56+524_56+525insTTTA",
          "hgvs_p": null,
          "transcript": "ENST00000600621.6",
          "protein_id": "ENSP00000472549.2",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 892,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2679,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4229,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 23,
          "intron_rank": 4,
          "intron_rank_end": null,
          "gene_symbol": "DPP9",
          "gene_hgnc_id": 18648,
          "hgvs_c": "c.56+524_56+525insTTTA",
          "hgvs_p": null,
          "transcript": "ENST00000601130.6",
          "protein_id": "ENSP00000471629.2",
          "transcript_support_level": 4,
          "aa_start": null,
          "aa_end": null,
          "aa_length": 892,
          "cds_start": -4,
          "cds_end": null,
          "cds_length": 2679,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4387,
          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
          "feature": null
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 22,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "DPP9",
          "gene_hgnc_id": 18648,
          "hgvs_c": "c.56+521_56+524dupTTTA",
          "hgvs_p": null,
          "transcript": "NM_001384617.1",
          "protein_id": "NP_001371546.1",
          "transcript_support_level": null,
          "aa_start": null,
          "aa_end": null,
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          "cds_start": -4,
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          "cds_length": 2673,
          "cdna_start": null,
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          "cdna_length": 4267,
          "mane_select": null,
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        {
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          "strand": false,
          "consequences": [
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          ],
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          "exon_count": 22,
          "intron_rank": 3,
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          "gene_symbol": "DPP9",
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          "hgvs_c": "c.56+521_56+524dupTTTA",
          "hgvs_p": null,
          "transcript": "NM_001384618.1",
          "protein_id": "NP_001371547.1",
          "transcript_support_level": null,
          "aa_start": null,
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          "aa_length": 883,
          "cds_start": -4,
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          "cds_length": 2652,
          "cdna_start": null,
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          "mane_select": null,
          "mane_plus": null,
          "biotype": null,
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        },
        {
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          "canonical": false,
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          "strand": false,
          "consequences": [
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          "exon_rank": null,
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          "intron_rank": 3,
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          "gene_symbol": "DPP9",
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          "transcript": "NM_001384619.1",
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          "protein_id": "NP_001371549.1",
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          "intron_rank": 4,
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          "gene_symbol": "DPP9",
          "gene_hgnc_id": 18648,
          "hgvs_c": "c.56+521_56+524dupTTTA",
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          "transcript": "NM_001384621.1",
          "protein_id": "NP_001371550.1",
          "transcript_support_level": null,
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          "mane_select": null,
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        {
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          ],
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        {
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          "consequences": [
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          "intron_rank": 3,
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          "gene_symbol": "DPP9",
          "gene_hgnc_id": 18648,
          "hgvs_c": "c.-178+521_-178+524dupTTTA",
          "hgvs_p": null,
          "transcript": "NM_001384623.1",
          "protein_id": "NP_001371552.1",
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          "cdna_start": null,
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          "mane_select": null,
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        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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            "intron_variant"
          ],
          "exon_rank": null,
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          "exon_count": 23,
          "intron_rank": 3,
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          "gene_symbol": "DPP9",
          "gene_hgnc_id": 18648,
          "hgvs_c": "c.-153-6_-153-3dupTTTA",
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          "transcript": "NM_001384624.1",
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        },
        {
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          "strand": false,
          "consequences": [
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          ],
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          "intron_rank": 3,
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          "gene_symbol": "DPP9",
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        {
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          "gene_symbol": "DPP9",
          "gene_hgnc_id": 18648,
          "hgvs_c": "c.-181-474_-181-471dupTTTA",
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          "transcript": "NM_001384626.1",
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        {
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          "consequences": [
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          ],
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          "gene_symbol": "DPP9",
          "gene_hgnc_id": 18648,
          "hgvs_c": "c.-230+521_-230+524dupTTTA",
          "hgvs_p": null,
          "transcript": "NM_001384627.1",
          "protein_id": "NP_001371556.1",
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          "cdna_start": null,
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          "cdna_length": 4581,
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          "biotype": null,
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        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "intron_variant"
          ],
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          "exon_count": 23,
          "intron_rank": 3,
          "intron_rank_end": null,
          "gene_symbol": "DPP9",
          "gene_hgnc_id": 18648,
          "hgvs_c": "c.-230+524_-230+525insTTTA",
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